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Year Number of Results
2010 2
2011 1
2013 1
2014 1
2015 1
2016 2
2018 1
2019 1
2020 6
2021 8
2022 7
2023 8
2024 1

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35 results

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Page 1
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: bain jm. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Association of Birth During the COVID-19 Pandemic With Neurodevelopmental Status at 6 Months in Infants With and Without In Utero Exposure to Maternal SARS-CoV-2 Infection.
Shuffrey LC, Firestein MR, Kyle MH, Fields A, Alcántara C, Amso D, Austin J, Bain JM, Barbosa J, Bence M, Bianco C, Fernández CR, Goldman S, Gyamfi-Bannerman C, Hott V, Hu Y, Hussain M, Factor-Litvak P, Lucchini M, Mandel A, Marsh R, McBrian D, Mourad M, Muhle R, Noble KG, Penn AA, Rodriguez C, Sania A, Silver WG, O'Reilly KC, Stockwell M, Tottenham N, Welch MG, Zork N, Fifer WP, Monk C, Dumitriu D. Shuffrey LC, et al. Among authors: bain jm. JAMA Pediatr. 2022 Jun 1;176(6):e215563. doi: 10.1001/jamapediatrics.2021.5563. Epub 2022 Jun 6. JAMA Pediatr. 2022. PMID: 34982107 Free PMC article.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: bain jm. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
Assessment of Neurodevelopment in Infants With and Without Exposure to Asymptomatic or Mild Maternal SARS-CoV-2 Infection During Pregnancy.
Firestein MR, Shuffrey LC, Hu Y, Kyle M, Hussain M, Bianco C, Hott V, Hyman SP, Kyler M, Rodriguez C, Tejeda Romero M, Tzul Lopez H, Alcántara C, Amso D, Austin J, Bain JM, Barbosa J, Battarbee AN, Bruno A, Ettinger S, Factor-Litvak P, Gilboa S, Goldman S, Gyamfi-Bannerman C, Maniatis P, Marsh R, Morrill T, Mourad M, Muhle R, Newes-Adeyi G, Noble KG, O'Reilly KC, Penn AA, Reichle L, Sania A, Semenova V, Silver WG, Smotrich G, Tita AT, Tottenham N, Varner M, Welch MG, Zork N, Garey D, Fifer WP, Stockwell MS, Monk C, Dawood F, Dumitriu D. Firestein MR, et al. Among authors: bain jm. JAMA Netw Open. 2023 Apr 3;6(4):e237396. doi: 10.1001/jamanetworkopen.2023.7396. JAMA Netw Open. 2023. PMID: 37036706 Free PMC article.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, Quaio CRAC, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik PJ. McGee SR, et al. Among authors: bain jm. Hum Mol Genet. 2023 Jan 13;32(3):386-401. doi: 10.1093/hmg/ddac200. Hum Mol Genet. 2023. PMID: 35981081 Free PMC article.
Cerebrospinal Analysis in Patients With COVID-19.
Miller EH, Namale VS, Kim C, Dugue R, Waldrop G, Ciryam P, Chong AM, Zucker J, Miller EC, Bain JM, Willey JZ, Doyle K, Boehme A, Claassen J, Uhlemann AC, Thakur KT. Miller EH, et al. Among authors: bain jm. Open Forum Infect Dis. 2020 Oct 18;7(11):ofaa501. doi: 10.1093/ofid/ofaa501. eCollection 2020 Nov. Open Forum Infect Dis. 2020. PMID: 33230485 Free PMC article.
Genetic testing in individuals with cerebral palsy.
May HJ, Fasheun JA, Bain JM, Baugh EH, Bier LE, Revah-Politi A; New York Presbyterian Hospital/Columbia University Irving Medical Center Genomics Team; Roye DP Jr, Goldstein DB, Carmel JB. May HJ, et al. Among authors: bain jm. Dev Med Child Neurol. 2021 Dec;63(12):1448-1455. doi: 10.1111/dmcn.14948. Epub 2021 Jun 10. Dev Med Child Neurol. 2021. PMID: 34114234 Free PMC article.
Neurologic manifestations in an infant with COVID-19.
Dugue R, Cay-Martínez KC, Thakur KT, Garcia JA, Chauhan LV, Williams SH, Briese T, Jain K, Foca M, McBrian DK, Bain JM, Lipkin WI, Mishra N. Dugue R, et al. Among authors: bain jm. Neurology. 2020 Jun 16;94(24):1100-1102. doi: 10.1212/WNL.0000000000009653. Epub 2020 Apr 23. Neurology. 2020. PMID: 32327489 Free PMC article. No abstract available.
35 results